SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
373089
ClinVar RCV Id:
RCV000413186
RCV000765613
RCV000788318
RCV001375986
RCV001813471
RCV003327295
RCV004530516
dbSNP Id:
rs747430075
ExAC:
22:21347167 C / T
gnomAD v2:
22-21347167-C-T
gnomAD v4:
22-20992878-C-T
COSMIC:
COSM4462153
ERepo:
CA501019/MONDO:0021060/094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992878C>T , CM000684.2:g.20992878C>T | GRCh38 |
| NC_000022.10:g.21347167C>T , CM000684.1:g.21347167C>T | GRCh37 |
| NC_000022.9:g.19677167C>T | NCBI36 |
| NG_034193.1:g.15610C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.1234C>T | ENSP00000515073.1:p.Arg412Cys | |
| ENST00000495142.6:n.579C>T | ||
| ENST00000642151.1:c.1065C>T | ||
| ENST00000643578.1:n.1256C>T | ||
| ENST00000646124.2:c.1234C>T MANE Select | ENSP00000496779.1:p.Arg412Cys | |
| ENST00000646506.1:n.813C>T | ||
| ENST00000215739.12:c.1234C>T | ENSP00000215739.8:p.Arg412Cys | |
| ENST00000479606.5:n.1380C>T | ||
| ENST00000492480.1:n.290C>T | ||
| NM_006767.3:c.1234C>T | NP_006758.2:p.Arg412Cys | |
| NM_006767.4:c.1234C>T MANE Select | NP_006758.2:p.Arg412Cys |